Seckel’s syndrome is one of the congenital diseases that affect the development of people from the stage of gestation until after birth and which has repercussions both on appearance and basic biological functions as well as on mental processes.

Although the most obvious identifying element is short stature or dwarfism and, in most cases, the shape of the nose, behind this clinical picture there are many other unusual manifestations that can seriously compromise a person’s quality of life if not properly cared for.

In this article we will see what are the known symptoms and causes of Seckel’s syndrome, as well as its treatment .

What is Seckel’s syndrome?

What we know as Seckel’s syndrome is a group of physical and mental alterations that appear before birth and have genetic causes at their base.

It is a rare disease that is characterized by a slowdown in the development of the fetus, so that its level of development is “delayed” in many respects.

Symptoms

The main signs and symptoms associated with Seckel syndrome are as follows.

1. Microcephaly

This is one of the most characteristic signs of Seckel’s syndrome, and consists of an underdeveloped cranial vault , which makes the head small and therefore the brain has less room to grow. This is important, as this part of the nervous system must expand rapidly during this phase of life.

2. Mental retardation

This is one of the consequences of the reduced size of the skull in relation to the rest of the body. The malformations in the brain that result from this limitation of space often cause more limited cognitive development than normal, although this is not apparent at birth.

3. Bird profile

This is the name given to the appearance of the face that is common in children with Seckel’s syndrome. It has to do with the small size of the head, comparatively large eyes, and a very pronounced nasal bridge that gives the sensation of a “peak” .

4. Small stature or dwarfism

In general, people with Sickler syndrome are smaller than what is expected for their age group. This also affects the proportions, as the extremities are small s in proportion to the rest of the body.

On the other hand, as a consequence of the slow maturative development, the bone configuration is also poorly developed, which can lead to the appearance of some skeletal disorders.

5. Other signs and symptoms

There are other common signs and symptoms of Seckel syndrome, including the following:

  • Dysplastic ears : the development of the ears is also insufficient, so that their design is not as sophisticated as it usually is for other people.
  • Dental dysplasia : the teeth are poorly developed and their distribution is defective, which sometimes prevents the mouth from closing properly.
  • Strabismus : the eyes are deflected, so that they do not point outwards in a parallel way.
  • Defects in the palate : the part of the palate that is altered, such as the presence of holes or a too pronounced and too narrow vault.

Diagnosis

Seckel’s syndrome can be anticipated from the developmental phase of the fetus through the use of ultrasound (the screening of malformations and bone development), although the diagnosis is not made until the signs and symptoms have had time to be expressed, which occurs during early childhood but not in the weeks immediately following birth.

Causes

Currently, the causes of Seckel’s syndrome are little known. However, it is known that it is an alteration based on genetic triggers of the autosomal recessive type , which implies that the defective version of a certain gene must be present in both the father and the mother for the offspring to express the symptoms.

On the other hand, there is not a single gene that produces the symptoms of Seckel’s syndrome, but there are currently three known genetic alterations linked to this disease. In turn, these different origins give rise to different types of Seckel’s syndrome, linked to chromosomes 3, 14 and 18.

Treatment of Seckel’s syndrome

There is no known cure for Seckel’s syndrome, since it is genetic in origin and its effects begin to be felt from the formation of the fetus. However, there are several strategies that can help to alleviate the negative consequences that the symptoms generate .

In this sense, an interdisciplinary approach is necessary and skills training aimed at preventing problems derived from specific complications such as problems with chewing or breathing, as well as therapy aimed at learning rules of behaviour and relationships with others. These kinds of initiatives must be adapted to the level of intellectual development of each patient.